المؤلفون: Liskova, P.

مصطلحات موضوعية: 617.7

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625214

المؤلفون: Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Mignot C, Heron D, Drunat S, Verloes A, Moore R, Metcalfe A, Kohler S, Zonneveld-Huijssoon E, Kerstjens Frederikse WS, Abbott KM, van Gijn M, Ruvolo D, Roelofs-Prins D, Neerincx PB, van der Vries G, van der Velde JK, Swertz MA, Carneiro F, Ferreira P, Garrido L, Fernandes S, Gullo I, Ferreira M, Jose CS, Barbosa-Matos R, Peters S, Sommer AK, Spier I, Aretz S, Neri M, Bigoni S, Gualandi F, Selvatici R, Ferlini A, Piluso G, Zanobio M, Zeuli R, Torella A, Banfi S, Pinelli M, Morleo M, Nigro V, Smal N, Millevert C, Stamberger H, Weckhuysen S, De Ridder W, Van de Vondel L, de Jonghe P, De Winter J, de Vries G, Baets J, Timmerman V, Muller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Rohrer J, Moloney P, Bellampalli R, Sisodiya SM, Magrinelli F, Cali E, Morsy H, Efthymiou S, Vandrovcova J, Reilly M, Houlden H, Hanna M, Costa A, Robert G, Danis D, Robinson P, Spalding D, Thomas C, Freeberg M, Keane T, Parkinson H, Krebsova A, Dolezalova P, Liskova P, Ryba L, Havlovicova M, Frankova V, Kremlikova RP, Thomasova D, Turnovec M, Macek M, Stojkovic T, Atalaia A, Cohen E, Eymard B, Metay C, Ben Yaou R, Nelson I, Allamand V, Evangelista T, Bonne G, Coarelli G, Heinzmann A, Guillot-Noel L, Davoine C-S, Durr A, Stevanin G, Lebreton E, Lucano C, Chahdil M, Hongnat O, Lagorce D, Hanauer M, Rath A, Bros-Facer V, Gumus G, Raineri E, Gut M, Dabad M, Codina AE, Pico D, Hernandez C, Fernandez-Callejo M, Corvo A, Papakonstantinou A, Matalonga L, Piscia D, Gut IG, Couturier V, Bruel A-L, Duffourd Y, Denomme-Pichon A-S, Vitobello A, Thauvin C, Faivre L, Jackson A, Alexander E, Banka S, Clayton-Smith J, Engelhardt K, Hambleton S, Manera JD, Bettolo CM, Straub V

المصدر: npj Genomic Medicine, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302269; https://eprints.ncl.ac.uk/fulltext.aspx?url=302269/ECBA270E-5F19-4FD7-9F25-70B5F6B6D7ED.pdf&pub_id=302269

الاتاحة: https://eprints.ncl.ac.uk/302269

المؤلفون: Patterson, K, Chong, JX, Chung, DD, Lisch, L, Møller, HU, Karp, CL, Dreisler, E, Lockington, D, Rohrbach, JM, Garczarczyk-Asim, D, Müller, T, Tuft, SJ, Skalicka, P, University of Washington Center for Rare Disease Research,, Wilnai, Y, Samra, NN, Ibrahim, A, Mandel, H, Davidson, AE, Liskova, P, Aldave, AJ, Bamshad, MJ, Janecke, AR

المصدر: American Journal of Ophthalmology , 258 pp. 183-195. (2024)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2.0-S0002939423004403-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10179980/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2.0-S0002939423004403-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10179980/

المؤلفون: Obrovská, Jana, Jarkovská, Lucie, Lišková, Katerina

المصدر: Intercultural Education. 2021 32(1):62-82.

Peer Reviewed: Y

Page Count: 21

Descriptors: Foreign Countries, Ethnicity, Peer Relationship, Immigrants, Coping, Student Diversity, Elementary School Students, Age Differences, Peer Influence, Grade 5, Grade 9, Helping Relationship, Social Capital, Compliance (Psychology), Cultural Influences, Cultural Differences, Language Usage

مصطلحات جغرافية: Czech Republic

المؤلفون: Celiker C, Weissova K, Cerna KA, Oppelt J, Dorgau B, Gambin FM, Sebestikova J, Lako M, Sernagor E, Liskova P, Barta T

المصدر: iScience, 21 July 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/292970; https://eprints.ncl.ac.uk/fulltext.aspx?url=292970/614778D8-84E7-4043-9E4D-EC44D65BDE10.pdf&pub_id=292970

الاتاحة: https://eprints.ncl.ac.uk/292970

المؤلفون: Corradi, Zelia, Khan, M., Hitti-Malin, R., Mishra, K., Whelan, L., Cornelis, S. S., Hoyng, C. B., Kämpjärvi, K., Klaver, C. C. W., Liskova, P., Stohr, H., Weber, B. H. F., Banfi, S., Farrar, G. J., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, Claire-Marie, Cremers, F. P. M.

المساهمون: Radboud University Medical Center Nijmegen (RadboudUMC), Trinity College Dublin, Blueprint Genetics, Erasmus University Medical Center Rotterdam (Erasmus MC), Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), First Faculty of Medicine Charles University, University of Regensburg, University Hospital Regensburg, Università degli studi della Campania "Luigi Vanvitelli" = University of the Study of Campania Luigi Vanvitelli, The Hebrew University of Jerusalem (HUJ), Hadassah Hebrew University Medical Center Jerusalem, Columbia University New York, Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 2666-2477 ; HGG Adv ; https://hal.univ-lille.fr/hal-04701192 ; HGG Adv, 2023, HGG Adv, 4 (4), pp.100237. ⟨10.1016/j.xhgg.2023.100237⟩.

مصطلحات موضوعية: ABCA4, ABCA4-associated retinopathies, deep-intronic variants, missing heritability, smMIPs sequencing, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/37705246; PUBMED: 37705246; PUBMEDCENTRAL: PMC10534262

الاتاحة: https://hal.univ-lille.fr/hal-04701192
https://hal.univ-lille.fr/hal-04701192v1/document
https://hal.univ-lille.fr/hal-04701192v1/file/PIIS2666247723000696.pdf
https://doi.org/10.1016/j.xhgg.2023.100237

المؤلفون: Petzold, A, Liu, Y, Fraser, C, Abegg, M, Alroughani, R, Alshowaeir, D, Alvarenga, R, Andris, C, Asgari, N, Barnett, Y, Battistella, R, Behbehani, R, Berger, T, Bikbov, MM, Biotti, D, Biousse, V, Boschi, A, Brazdil, M, Brezhnev, A, Calabresi, P, Cordonnier, M, Costello, F, Cruz, FM, Cunha, LP, Daoudi, S, Deschamps, R, DeSeze, J, Diem, R, Etemadifar, M, Flores-Rivera, J, Fonseca, P, Frederiksen, J, Frohman, E, Frohman, T, FromentTilikete, C, Fujihara, K, Gálvez, A, Gouider, R, Gracia, F, Grigoriadis, N, Guajardo, JM, Habek, M, Hawlina, M, Hernández-Martínez de Lapiscina, E, Hooker, J, Hor, JY, Howlett, W, Huang-Link, Y, Idrissova, Z, Illes, Z, Jancic, J, Jindahra, P, Karussis, D, Kerty, E, Kim, HJ, Lagrèze, W, Leocani, L, Levin, N, Liskova, P, Maiga, Y, Marignier, R, McGuigan, C, Meira, D, Merle, H, Monteiro, MLR, Moodley, A, Moura, F, Muñoz, S, Mustafa, S, Nakashima, I, Noval, S, Oehninger, C, Ogun, O, Omoti, A, Pandit, L, Paul, F, Rebolleda, G, Reddel, S, Rejdak, K, Rejdak, R, Rodriguez-Morales, A, Rougier, MB, Sa, MJ, Sanchez-Dalmau, B, Saylor, D, Shatriah, I, Siva, A, Stiebel-Kalish, H, Szatmary, G, Ta, L, Tenembaum, S, Tran, H, Trufanov, Y, VanPesch, V, Wang, AG, Wattjes, MP, Willoughby, E, Zakaria, M, Zvornicanin, J, Balcer, L

المصدر: The Lancet Neurology , 22 (5) pp. 376-377. (2023)

مصطلحات موضوعية: Humans, Optic Neuritis, Multiple Sclerosis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10181221/12/Petzold_response-RAPD-accepted-version.pdf; https://discovery.ucl.ac.uk/id/eprint/10181221/1/response-RAPD-v6-R1e-supplement-clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10181221/9/strong-RAPD.mp4; https://discovery.ucl.ac.uk/id/eprint/10181221/10/normal-hippus.mp4; https://discovery.ucl.ac.uk/id/eprint/10181221/11/weak-RAPD.mp4; https://discovery.ucl.ac.uk/id/eprint/10181221/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181221/12/Petzold_response-RAPD-accepted-version.pdf
https://discovery.ucl.ac.uk/id/eprint/10181221/1/response-RAPD-v6-R1e-supplement-clean.pdf
https://discovery.ucl.ac.uk/id/eprint/10181221/9/strong-RAPD.mp4
https://discovery.ucl.ac.uk/id/eprint/10181221/10/normal-hippus.mp4
https://discovery.ucl.ac.uk/id/eprint/10181221/11/weak-RAPD.mp4
https://discovery.ucl.ac.uk/id/eprint/10181221/

المؤلفون: Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K., Whelan, L., Cornelis, S., Hoyng, C., Kämpjärvi, K., Klaver, C., Liskova, P., Stohr, H., Weber, B., Banfi, S., Farrar, G., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C., Cremers, F.

المساهمون: ABCA4-Study Group

المصدر: Human Genetics and Genomics Advances

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000D-B442-D; http://hdl.handle.net/21.11116/0000-000D-DEC1-F

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-B442-D
http://hdl.handle.net/21.11116/0000-000D-DEC1-F

المؤلفون: Van de Sompele, S., Small, K.W., Cicekdal, M.B., Soriano, V.L., D'haene, E., Shaya, F.S., Agemy, S., Van der Snickt, T., Rey, A.D., Rosseel, T., Van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A.A., Boon, CJF, De Zaeytijd, J., Inglehearn, C.F., Kousal, B., Leroy, B.P., Rivolta, C., Vaclavik, V., van den Ende, J., van Schooneveld, M.J., Gómez-Skarmeta, J.L., Tena, J.J., Martinez-Morales, J.R., Liskova, P., Vleminckx, K., De Baere, E.

المصدر: American journal of human genetics, vol. 109, no. 11, pp. 2029-2048

مصطلحات موضوعية: Adult, Animals, Humans, Pedigree, Tomography, Optical Coherence, Corneal Dystrophies, Hereditary, Retina/metabolism, Xenopus laevis/genetics, IRX1, North Carolina macular dystrophy, NCMD, PRDM13, UMI-4C, cis-regulatory elements, CREs, enhanceropathy, human retina, multi-omics, non-coding single-nucleotide variants, SNVs, whole-genome sequencing

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/36243009; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0187457C35DF4; https://serval.unil.ch/notice/serval:BIB_0187457C35DF; https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_0187457C35DF
https://doi.org/10.1016/j.ajhg.2022.09.013
https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4

المؤلفون: Liskova, P, Hafford-Tear, NJ, Skalicka, P, Malinka, F, Jedlickova, J, Ďuďáková, Ľ, Pontikos, N, Davidson, AE, Tuft, S

المصدر: Acta Ophthalmologica , 100 (7) e1426-e1430. (2022)

مصطلحات موضوعية: Cornea, corneal endothelium, GRHL2, OVOL2, ZEB1

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147238/2/Davidson_Manuscript%2016_11_21.pdf; https://discovery.ucl.ac.uk/id/eprint/10147238/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147238/2/Davidson_Manuscript%2016_11_21.pdf
https://discovery.ucl.ac.uk/id/eprint/10147238/

المؤلفون: Dudakova, L, Tuft, S, Cheong, S-S, Skalicka, P, Jedlickova, J, Fichtl, M, Hlozanek, M, Filous, A, Vaneckova, M, Vincent, AL, Hardcastle, AJ, Davidson, AE, Liskova, P

المصدر: Acta Ophthalmologica , 100 (4) pp. 431-439. (2022)

مصطلحات موضوعية: CHRDL1, brain MRI, megalocornea, heterozygous carriers, keratoconus, posterior corneal vesicles

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10137613/1/Hardcastle_Megalocornea%20-%20Acta_revision2.pdf; https://discovery.ucl.ac.uk/id/eprint/10137613/6/Hardcastle_Table%201%20Megalocornea%20Acta_revision_LD.pdf; https://discovery.ucl.ac.uk/id/eprint/10137613/13/Hardcastle_Table%202_revision2_LD.pdf; https://discovery.ucl.ac.uk/id/eprint/10137613/23/Hardcastle_Table%203%20Megalocornea%20Acta_revize2_LD.pdf; https://discovery.ucl.ac.uk/id/eprint/10137613/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10137613/1/Hardcastle_Megalocornea%20-%20Acta_revision2.pdf
https://discovery.ucl.ac.uk/id/eprint/10137613/6/Hardcastle_Table%201%20Megalocornea%20Acta_revision_LD.pdf
https://discovery.ucl.ac.uk/id/eprint/10137613/13/Hardcastle_Table%202_revision2_LD.pdf
https://discovery.ucl.ac.uk/id/eprint/10137613/23/Hardcastle_Table%203%20Megalocornea%20Acta_revize2_LD.pdf
https://discovery.ucl.ac.uk/id/eprint/10137613/

المؤلفون: Van de Sompele, S, Small, KW, Cicekdal, MB, Soriano, VL, D'haene, E, Shaya, FS, Agemy, S, Van der Snickt, T, Rey, AD, Rosseel, T, Van Heetvelde, M, Vergult, S, Balikova, I, Bergen, AA, Boon, CJF, De Zaeytijd, J, Inglehearn, CF, Kousal, B, Leroy, BP, Rivolta, C, Vaclavik, V, van den Ende, J, van Schooneveld, MJ, Gómez-Skarmeta, JL, Tena, JJ, Martinez-Morales, JR, Liskova, P, Vleminckx, K, De Baere, E

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/192823/1/PIIS0002929722004463.pdf; Van de Sompele, S, Small, KW, Cicekdal, MB et al. (26 more authors) (2022) Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. American Journal of Human Genetics, 109 (11). pp. 2029-2048. ISSN 0002-9297

الاتاحة: https://eprints.whiterose.ac.uk/192823/
https://eprints.whiterose.ac.uk/192823/1/PIIS0002929722004463.pdf

المؤلفون: Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H, ERN_EYE Study Group, Suppiej, Agnese, Parmeggiani, Francesco

المساهمون: Black, Gc, Sergouniotis, P, Sodi, A, Leroy, Bp, Van Cauwenbergh, C, Liskova, P, Grønskov, K, Klett, A, Kohl, S, Taurina, G, Sukys, M, Haer-Wigman, L, Nowomiejska, K, Marques, Jp, Leroux, D, Cremers, Fpm, De Baere, E, Dollfus, H, ERN_EYE Study, Group, Suppiej, Agnese, Parmeggiani, Francesco

مصطلحات موضوعية: ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseases

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33743793; info:eu-repo/semantics/altIdentifier/wos/WOS:000631539300005; volume:16; issue:1; firstpage:142; lastpage:149; numberofpages:8; journal:ORPHANET JOURNAL OF RARE DISEASES; info:eu-repo/grantAgreement/EC/H2020/739534; http://hdl.handle.net/11392/2455701; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103229807; https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-x

الاتاحة: http://hdl.handle.net/11392/2455701
https://doi.org/10.1186/s13023-021-01756-x
https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-x

المؤلفون: Petzold A., Albrecht P., Balcer L., Bekkers E., Brandt A. U., Calabresi P. A., Deborah O. G., Graves J. S., Green A., Keane P. A., Nij Bijvank J. A., Sander J. W., Paul F., Saidha S., Villoslada P., Wagner S. K., Yeh E. A., Aktas O., Antel J., Asgari N., Audo I., Avasarala J., Avril D., Bagnato F. R., Banwell B., Bar-Or A., Behbehani R., Manterola A. B., Bennett J., Benson L., Bernard J., Bremond-Gignac D., Britze J., Burton J., Calkwood J., Carroll W., Chandratheva A., Cohen J., Comi G., Cordano C., Costa S., Costello F., Courtney A., Cruz-Herranz A., Cutter G., Crabb D., Delott L., De Seze J., Diem R., Dollfuss H., El Ayoubi N. K., Fasser C., Finke C., Fischer D., Fitzgerald K., Fonseca P., Frederiksen J. L., Frohman E., Frohman T., Fujihara K., Cuellar I. G., Galetta S., Garcia-Martin E., Giovannoni G., Glebauskiene B., Suarez I. G., Jensen, G. P., Hamann S., Hartung H. -P., Havla J., Hemmer B., Huang S. -C., Imitola J., Jasinskas V., Jiang H., Kafieh R., Kappos L., Kardon R., Keegan D., Kildebeck E., Kim U. S., Klistorner S., Knier B., Kolbe S., Korn T., Krupp L., Lagreze W., Leocani L., Levin N., Liskova P., Preiningerova J. L., Lorenz B., May E., Miller D., Mikolajczak J., Said S. M., Montalban X., Morrow M., Mowry E., Murta J., Navas C., Nolan R., Nowomiejska K., Oertel F. C., Oh J., Oreja-Guevara C., Orssaud C., Osborne B., Outteryck O., Paiva C., Palace J., Papadopoulou A., Patsopoulos N., Pontikos N., Preising M., Prince J., Reich D., Rejdak R., Ringelstein M., Rodriguez de Antonio L., Sahel J. -A., Sanchez-Dalmau B., Sastre-Garriga J., Schippling S., Schuman J., Shindler K., Shin R., Shuey N., Soelberg K., Specovius S., Suppiej A., Thompson A., Toosy A., Torres R., Touitou V., Trauzettel-Klosinski S., van der Walt A., Vermersch P., Vidal-Jordana A., Waldman A. T., Waters C., Wheeler R., White O., Wilhelm H., Winges K. M., Wiegerinck N., Wiehe L., Wisnewski T., Wong S., Wurfel J., Yaghi S., You Y., Yu Z., Yu-Wai-Man P., Zemaitien≐ R., Zimmermann H.

المساهمون: Petzold, A., Albrecht, P., Balcer, L., Bekkers, E., Brandt, A. U., Calabresi, P. A., Deborah, O. G., Graves, J. S., Green, A., Keane, P. A., Nij Bijvank, J. A., Sander, J. W., Paul, F., Saidha, S., Villoslada, P., Wagner, S. K., Yeh, E. A., Aktas, O., Antel, J., Asgari, N., Audo, I., Avasarala, J., Avril, D., Bagnato, F. R., Banwell, B., Bar-Or, A., Behbehani, R., Manterola, A. B., Bennett, J., Benson, L., Bernard, J., Bremond-Gignac, D., Britze, J., Burton, J., Calkwood, J., Carroll, W., Chandratheva, A., Cohen, J., Comi, G., Cordano, C., Costa, S., Costello, F., Courtney, A., Cruz-Herranz, A., Cutter, G., Crabb, D., Delott, L., De Seze, J., Diem, R., Dollfuss, H., El Ayoubi, N. K., Fasser, C., Finke, C., Fischer, D., Fitzgerald, K., Fonseca, P., Frederiksen, J. L., Frohman, E., Frohman, T., Fujihara, K., Cuellar, I. G., Galetta, S., Garcia-Martin, E., Giovannoni, G., Glebauskiene, B., Suarez, I. G., Jensen, G. P., Hamann, S., Hartung, H. -P., Havla, J., Hemmer, B., Huang, S. -C., Imitola, J., Jasinskas, V., Jiang, H., Kafieh, R., Kappos, L., Kardon, R., Keegan, D., Kildebeck, E., Kim, U. S., Klistorner, S., Knier, B., Kolbe, S., Korn, T., Krupp, L., Lagreze, W., Leocani, L., Levin, N., Liskova, P., Preiningerova, J. L., Lorenz, B., May, E., Miller, D., Mikolajczak, J., Said, S. M., Montalban, X., Morrow, M., Mowry, E., Murta, J.

مصطلحات موضوعية: Artificial Intelligence, Big Data, Cohort Studie, Human, Nervous System Disease, Retina, Tomography, Optical Coherence, Algorithms

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34008926; info:eu-repo/semantics/altIdentifier/wos/WOS:000651823300001; volume:8; issue:7; firstpage:1528; lastpage:1542; numberofpages:15; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11392/2488769

الاتاحة: http://hdl.handle.net/11392/2488769
https://doi.org/10.1002/acn3.51320
https://onlinelibrary.wiley.com/doi/10.1002/acn3.51320

المؤلفون: Hitti-Malin, R. J., Panneman, D. M., Corradi, Z., Boonen, E. G. M., Astuti, G., Dhaenens, Claire-Marie, Stöhr, H., Weber, B. H. F., Sharon, D., Banin, E., Karali, M., Banfi, S., Ben-Yosef, T., Glavač, D., Farrar, G. J., Ayuso, C., Liskova, P., Dudakova, L., Vajter, M., Ołdak, M., Szaflik, J. P., Matynia, A., Gorin, M. B., Kämpjärvi, K., Bauwens, M., De Baere, E., Hoyng, C. B., Li, C. H. Z., Klaver, C. C. W., Inglehearn, C. F., Fujinami, K., Rivolta, C., Allikmets, R., Zernant, J., Lee, W., Podhajcer, O. L., Fakin, A., Sajovic, J., Altalbishi, A., Valeina, S., Taurina, G., Vincent, A. L., Roberts, L., Ramesar, R., Sartor, G., Luppi, E., Downes, S. M., Van Den Born, L. I., Mclaren, T. L., De Roach, J. N., Lamey, T. M., Thompson, J. A., Chen, F. K., Tracewska, A. M., Kamakari, S., Sallum, J. M. F., Bolz, H. J., Kayserili, H., Roosing, S., Cremers, F. P. M.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance

Relation: Biomolecules; http://hdl.handle.net/20.500.12210/114178

الاتاحة: https://hdl.handle.net/20.500.12210/114178

المؤلفون: Kirillov, Anatol N., Liskova, Nadejda

مصطلحات موضوعية: Mathematics - Quantum Algebra, Mathematics - Combinatorics

URL الوصول: http://arxiv.org/abs/math/0103030

المؤلفون: Hardcastle, AJ, Liskova, P, Bykhovskaya, Y, McComish, BJ, Davidson, AE, Inglehearn, CF, Li, X, Choquet, H, Habeeb, Mahmoud, Lucas, SEM, Sahebjada, S, Pontikos, N, Lopez, KER, Khawaja, AP, Ali, M (Mehabat), Dudakova, L, Skalicka, P, van Dooren, Bart, Geerards, AJM, Haudum, CW, Lo Faro, V, Tenen, A, Simcoe, MJ, Patasova, K, Yarrand, D, Yin, J, Siddiqui, S, Rice, A, Farraj, LA, Chen, YDI, Rahi, JS, Krauss, RM, Theusch, E, Charlesworth, JC, Szczotka-Flynn, L, Toomes, C, Meester - Smoor, Magda, Richardson, AJ, Mitchell, PA, Taylor, KD, Melles, RB, Aldave, AJ, Mills, RA, Cao, K, Chan, E, Daniell, MD, Wang, JJ, Rotter, JI, Hewitt, AW, Macgregor, S, Klaver, Caroline, Ramdas, Wishal, Craig, JE, Iyengar, SK, O'Brart, D, Jorgenson, E, Baird, PN, Rabinowitz, YS, Burdon, KP, Hammond, CJ, Tuft, SJ, Hysi, PG

المصدر: Hardcastle , AJ , Liskova , P , Bykhovskaya , Y , McComish , BJ , Davidson , AE , Inglehearn , CF , Li , X , Choquet , H , Habeeb , M , Lucas , SEM , Sahebjada , S , Pontikos , N , Lopez , KER , Khawaja , AP , Ali , M , Dudakova , L , Skalicka , P , van Dooren , B , Geerards , AJM , Haudum , CW , Lo Faro , V , Tenen , A , Simcoe , MJ , Patasova , K , Yarrand ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/2c0aa6fe-21f9-4423-aeed-65ed83f4fdee
https://doi.org/10.1038/s42003-021-01784-0
https://pure.eur.nl/ws/files/58848268/s42003_021_01784_0.pdf
http://www.scopus.com/inward/record.url?scp=85101817565&partnerID=8YFLogxK
https://www.nature.com/articles/s42003-021-01784-0.pdf

المؤلفون: Dudakova, L, Skalicka, P, Davidson, AE, Sadan, AN, Chylova, M, Jahnova, H, Anteneova, N, Tesarova, M, Honzik, T, Liskova, P

المصدر: Genes , 12 (12) , Article 1918. (2021)

مصطلحات موضوعية: Kearns-Sayre syndrome, corneal endothelium, CTG18.1, TCF4, corneal dystrophy, endothelial failure, exome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10140372/1/Davidson_Should%20patients%20with%20kearns-sayre%20syndrome%20and%20corneal%20endothelial%20failure%20be%20genotyped%20for%20a%20TCF4%20trinucleotide%20repeat,%20commonly%20associated%20with%20fuchs%20endothelial%20corneal%20dystrophy%3F_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10140372/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10140372/1/Davidson_Should%20patients%20with%20kearns-sayre%20syndrome%20and%20corneal%20endothelial%20failure%20be%20genotyped%20for%20a%20TCF4%20trinucleotide%20repeat,%20commonly%20associated%20with%20fuchs%20endothelial%20corneal%20dystrophy%3F_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10140372/

المؤلفون: Maile, H, Li, J-PO, Gore, D, Leucci, M, Mulholland, P, Hau, S, Szabo, A, Fujinami, K, Davidson, A, Liskova, P, Hardcastle, A, Tuft, S, Pontikos, N

المصدر: JMIR Medical Informatics , 9 (12) , Article e27363. (2021)

مصطلحات موضوعية: artificial intelligence (144), machine learning (269), cornea, keratoconus, corneal tomography, subclinical, corneal imaging, decision support systems (12), corneal disease, keratometry

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10136782/7/Balaskas_PDF.pdf; https://discovery.ucl.ac.uk/id/eprint/10136782/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10136782/7/Balaskas_PDF.pdf
https://discovery.ucl.ac.uk/id/eprint/10136782/

المؤلفون: Farolfi, M, Cechova, A, Ondruskova, N, Zidkova, J, Kousal, B, Hansikova, H, Honzik, T, Liskova, P

المصدر: BMC Ophthalmology , 21 , Article 249. (2021)

مصطلحات موضوعية: N-linked glycosylation, Congenital disorder of glycosylation, ALG3-CDG, Optic nerve hypoplasia, Arthrogryposis, Transferrin isoelectric focusing, Novel mutation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10133972/1/ALG3-CDG%20a%20patient%20with%20novel%20variants%20and%20review%20of%20the%20genetic%20and%20ophthalmic%20findings.pdf; https://discovery.ucl.ac.uk/id/eprint/10133972/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10133972/1/ALG3-CDG%20a%20patient%20with%20novel%20variants%20and%20review%20of%20the%20genetic%20and%20ophthalmic%20findings.pdf
https://discovery.ucl.ac.uk/id/eprint/10133972/